Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2012 1
2015 1
2017 2
2018 1
2019 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Hypoparathyroidism, deafness, renal disease syndrome"
Page 1
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.
Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N. Belge H, et al. Nephrol Dial Transplant. 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271. Nephrol Dial Transplant. 2017. PMID: 27387476
BACKGROUND: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene. ...Diagnosis of HDR should be considered in any patient with hypoparathyroidism and …
BACKGROUND: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorde …
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW. Kim JH, et al. Clin Endocrinol (Oxf). 2015 Dec;83(6):790-6. doi: 10.1111/cen.12944. Epub 2015 Oct 19. Clin Endocrinol (Oxf). 2015. PMID: 26384470
Our cohort included 22 cases (59.5%) of 22q11.2 microdeletion syndrome. Other aetiologies included hypoparathyroidism-deafness-renal dysplasia syndrome (5/37, 13.5%) and one patient each with autoimmune polyglandular syndrome type 1, Kear …
Our cohort included 22 cases (59.5%) of 22q11.2 microdeletion syndrome. Other aetiologies included hypoparathyroidism-deafn …
Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.
Joseph ADD, Sirisena ND, Kumanan T, Sujanitha V, Strelow V, Yamamoto R, Wieczorek S, Dissanayake VHW. Joseph ADD, et al. BMC Endocr Disord. 2019 Oct 28;19(1):111. doi: 10.1186/s12902-019-0438-4. BMC Endocr Disord. 2019. PMID: 31660939 Free PMC article.
It is also known as HDR syndrome, and is characterized by varying degrees of hypoparathyroidism, sensorineural deafness and renal disease. ...It highlights the need for HDR syndrome to be considered in the differential diagnosis of persis …
It is also known as HDR syndrome, and is characterized by varying degrees of hypoparathyroidism, sensorineural deafness …
A Unique Genomic Variant of HDR Syndrome in Newborn.
Vidavalur R, Devapatla S. Vidavalur R, et al. Indian Pediatr. 2018 Aug 15;55(8):705-706. Indian Pediatr. 2018. PMID: 30218523 Free article.
BACKGROUND: HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene. CASE CHARACTERISTICS: A male preterm infant presented with multiple dysmorphic featu …
BACKGROUND: HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific re …
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
Yang A, Kim J, Ki CS, Hong SH, Cho SY, Jin DK. Yang A, et al. BMC Med Genet. 2017 Oct 26;18(1):121. doi: 10.1186/s12881-017-0484-6. BMC Med Genet. 2017. PMID: 29073906 Free PMC article.
BACKGROUND: Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromos …
BACKGROUND: Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Bara …
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.
Zahirieh A, Nesbit MA, Ali A, Wang K, He N, Stangou M, Bamichas G, Sombolos K, Thakker RV, Pei Y. Zahirieh A, et al. J Clin Endocrinol Metab. 2005 Apr;90(4):2445-50. doi: 10.1210/jc.2004-1969. Epub 2005 Feb 10. J Clin Endocrinol Metab. 2005. PMID: 15705923
The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of a member of the GATA-binding family of transcription factors, GATA3. ...We report a patient with renal failure, hypo …
The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by …
HDR syndrome: a follow-up genotype-phenotype analysis of a de novo missense Thr272Ile mutation in exon 4 of GATA3.
Gomes TS, Gortner L, Dockter G, Leitner D, Thakker RV, Rohrer T. Gomes TS, et al. Klin Padiatr. 2012 Nov;224(7):452-4. doi: 10.1055/s-0032-1329947. Epub 2012 Nov 30. Klin Padiatr. 2012. PMID: 23203342
Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome (MIM 146255) is a rare autosomal dominant disorder caused by mutations in the gene encoding GATA3, a dual zinc-finger transcription factor involved in vertebrate embryonic de …
Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome (MIM 146255) is a rare autosomal d …